Chd7^em1Jiao

CRISPR/Cas9 technology generated a C to T change at position 2471 resulting in a serine to phenylalanine substitution at residue 824 (p.S824F). This mouse mutation corresponds to the human S834F mutation, which is a pathological variant identified in CHARGE syndrome, idiopathic hypogonadotropic hypogonadism, and Kallmann syndrome patients. (J:298597)